Varaico: Literature-Extracted Genetic Variants

TFR2

361 papers

RefSeq Summary

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involve...

Pfam Domains

PAaa 241–328UCSCPA domain

Peptidase_M28aa 412–624UCSCPeptidase family M28

Gene Aliases

HGNC Name

transferrin receptor 2

HGNC Alias Symbols

HFE3; TFRC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003227.4

p.V198_G199delFs

c.594_597del4

Surrounding Variants

1 paper

NM_003227.4

p.Y197*

c.591C>G

1 paper

NM_003227.4

p.Y197*

c.591C>A

3 papers

NM_003227.4

p.Y197C

c.590A>G

1 paper

NM_003227.4

p.P205Splc

c.614+1G>C

10 papers

NM_003227.4

p.P205Splc

c.614+4A>G

1 paper

NM_003227.4

p.W192*

c.576G>A

1 paper

NM_003227.4

p.P205Splc

c.614+8C>T

1 paper

NM_003227.4

p.V191V

c.573G>T

2 papers

NM_003227.4

p.D189N

c.565G>A

1 paper

NM_003227.4

p.S184F

c.551C>T

1 paper

NM_003227.4

p.A182E

c.545C>A

1 paper

NM_003227.4

p.R180S

c.538C>A